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(Amyloid; Primary Amyloid; Secondary Amyloid; Hereditary Amyloid)

Pronounced: am’i-loy-dō’sis

En Español (Spanish Version)


Amyloidosis is a group of rare diseases characterized by deposits of a protein called amyloid which accumulate in body tissues and organs, impairing normal function.

  • There are three major forms:
    • Primary amyloidosis—found in the heart, lungs, skin, tongue, thyroid gland, intestines, liver, kidneys, and blood vessels
    • Secondary amyloidosis—found in the spleen, liver, kidneys, adrenal glands, and lymph nodes
    • Hereditary amyloidosis—found in the nerves, heart, blood vessels, and kidneys

These conditions are serious and require care from your doctor.


The causes of amyloidosis vary in its different forms.

  • Primary amyloidosis
    • The condition is caused by the deposition of antibody fragments, and is associated with bone marrow disorders such as multiple myeloma (cancer of the plasma cells), and related disorders.
  • Secondary amyloidosis—develops in response to chronic infection or inflammatory disease.
  • Hereditary amyloidosis—caused by mutations of specific proteins (amyloid) in the blood

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

The following factors increase your chance of developing amyloidosis:

  • Primary amyloidosis
    • Sex—men are at greater risk
    • Age—older than 40
    • Multiple myeloma
  • Secondary amyloidosis
    • Sex—men are at greater risk
    • Age—older than 40
    • Underlying chronic inflammatory or infectious diseases such as
    • History of Mediterranean fever
    • Hemodialysis —removal of blood from the arteries, cleansing it, adding nutrients, and returning it to the veins
    • Family history
  • Hereditary amyloidosis
    • Ethnicity: Portuguese, Swedish, Japanese
    • Familial Mediterranean fever


If you experience one or more of these symptoms, contact your doctor for a complete physical examination.

  • Symptoms for all forms of amyloidosis
    • Fatigue
    • Weight loss
    • Enlarged liver
    • Enlarged spleen
    • Signs of heart failure
  • Symptoms can be none to several and mild to severe, depending on the extent of the disease and the type of organ affected. The following is a list of additional symptoms as they relate to specific body systems:
    • Urinary tract
    • Skin
      • Easy bruising
      • Skin purpura (purplish skin around the eyes caused by small blood vessels leaking into the skin)
    • Lymphatic system
      • Enlarged lymph nodes
    • Endocrine system
      • Enlarged thyroid gland
    • Digestive System
      • Swallowing difficulties
      • Enlarged tongue
      • Enlarged liver
      • Diarrhea
      • Intestinal obstruction
      • Malabsorption (inadequate absorption of nutrients from the intestinal tract)
      • Clay colored stools
    • Neurologic system
      • Dementia —possible link to development of Alzheimer’s disease
      • Numbness, tingling, weakness in hands and feet
      • Swelling of nerves in the wrist
      • Weak hand grip
    • Cardiovascular system
      • Fluid accumulation in the tissues, causing swelling (edema)
      • Abnormal heart rhythm (arrhythmia)
      • Enlarged heart
      • Heart failure
      • Sudden death
      • Respiratory system
      • Difficulty breathing
      • Shortness of breath

Edema in Lower Legs

Pedal Edema

© 2008 Nucleus Medical Art, Inc.


Amyloidosis can be difficult to recognize because it produces so many complications. Underlying conditions may be fatal before amyloidosis is either suspected or diagnosed.

Your doctor will ask about your symptoms and medical history and perform a physical exam. Depending on your symptoms and his findings, the doctor may refer you to see one or many different specialists.

Tests may include the following:

  • Biopsy —removes a small sample of tissue or organ, either by needle or incision.
  • Electrocardiogram (ECG) —measures the electrical activity of the heart to diagnose heart disease
  • Echocardiogram —creates a detailed, moving image of your heart using high frequency sound waves
  • Kidney function evaluation—determines if there is excess protein in the urine
  • Urinalysis—chemically and microscopically examines urine for disease
  • Serum creatinine—blood test to measure kidney function and muscle mass
  • Blood urea nitrogen (BUN) levels—blood test to measure kidney function
  • Abdominal ultrasound —a test that uses sound waves to examine internal organs and blood vessels for abnormalities
  • Nerve conduction velocity—evaluates the condition of the nerves


There is no cure for any form of amyloidosis. The main consideration is to treat an underlying condition. Treatment to decrease or control symptoms and complications of amyloidosis has been only modestly successful. Talk with your doctor about the best treatment plan for you. Treatment options include:

Primary Amyloidosis

Treatment may include:

  • Chemotherapy
  • Autologous stem cell transplantation—the process of transfusing one’s own immature blood cells to replace diseased or damaged cells. Drugs which are often used include:
    • Melphalan
    • Prednisone
    • Thalidomide
    • Colchicine
  • Organ transplantation—removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient.
  • Splenectomy —removal of the spleen to decrease the production of amyloid.

Secondary Amyloidosis

Treatment may include:

  • Chemotherapy—Aggressive treatment of the underlying inflammatory process or disease to improve symptoms and/or slow progression of the disease; drugs which are often used include:
    • Melphalan
    • Prednisone
    • Thalidomide
    • Colchicine
  • Organ transplantation—removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient.
  • Splenectomy —removal of the spleen to decrease the production of amyloid.

Hereditary Amyloidosis

Treatment may include:

  • Chemotherapy—the use of chemicals to treat or control symptoms and/or slow progression of the disease using colchicine.
  • Organ transplantation—removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient.
  • Stem cell transplantation—the process of transferring cells from a donor body to the recipient (patient).

The Following Are Broad Treatments Used in All Forms of Amyloidosis


  • Diuretics—to rid your body of excess fluid
  • Steroids—to relieve inflammatory process


Special diets depending on the organ(s) affected and resultant complications.


Treatment to relieve pain and suffering from progressively fatal complications.


There is no known prevention for amyloidosis.


Amyloidosis Support Groups

Amyloidosis Support Network

National Institute of Health


BC Health Guide, British Columbia Ministry of Health

The Kidney Foundation of Canada


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Amyloidosis. MedlinePlus Medical Encyclopedia, National Institute of Health & National Library of Medicine. Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000533.htm . Accessed September 13, 2005.

Dambro MR. Griffith's 5-Minute Clinical Consult. 2001 ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2001.

Diseases and conditions A-Z. Mayoclinic.com website. Available at: http://www.mayoclinic.com/findinformation/diseasesandconditions/index.cfm . Accessed September 15, 2005.

Merlini, G, Bellotti, V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003; 349:583.

Special subjects “amyloidosis.” Merck Manual, 2nd Home Online Edition website. Available at: http://www.mercksource.com/pp/us/cns/cns_merckmanual_frameset.jsp . Accessed September 14, 2005.

Special subjects “amyloidosis.” Merck Manual, 17th Edition Centennial Online Edition (1999) website. Available at: http://80-online-statrefcom.ezproxy.library.tufts.edu/Document.aspx?DocId=87&FxId=21&SessionId=5353B6FTZGIRXSNW&Scroll=1&Index=0 . Accessed September 13, 2005.

Westermark, P, Benson, MD, Buxbaum, JN, et al. Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid 2005; 12:1.

Last reviewed Janaury 2008 by Jill D. Landis, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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